Entity Details

Primary name RFXK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14593
EntryNameRFXK_HUMAN
FullNameDNA-binding protein RFXANK
TaxID9606
Evidenceevidence at protein level
Length260
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesRFXANK

GO terms

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GOName
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007265 Ras protein signal transduction
GO:0010468 regulation of gene expression
GO:0042826 histone deacetylase binding
GO:0045171 intercellular bridge
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0090575 RNA polymerase II transcription regulator complex

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002110 Ankyrin repeatRepeatRepeat
IPR017362 DNA-binding, RFXANKFamilyFamily
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
209920 OMIMBare lymphocyte syndrome 2 (BLS2)A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. The disease is caused by variants affecting the gene represented in this entry.